title: [Resistance to acenocoumarol revealing a missense mutation of the vitamin K epoxyde reductase VKORC1: a case report].
abstract: A significant proportion of the interindividual variability of the response to vitamin K antagonist (VKA) treatment has been associated with genetic factors. Genetic variations affecting the vitamin K epoxide reductase complex subunit 1 (VKORC1) are associated with hypersensitivity or rarely with resistance to VKA. We report the case of a black women patient who presents a resistance to acenocoumarol. Despite the use of high doses of acenocoumarol (114 mg/week) for the treatment of recurrent pulmonary embolism, the International Normalized Ratio was below the therapeutic target. This resistance to acenocoumarol was confirmed by the identification of a missense mutation Val66Met of the vitamin K epoxide reductase.
authors.affiliation: Service de cardiologie, hôpital principal de Dakar, 1, avenue Nelson Mandéla, BP 3006, Dakar, Sénégal. Electronic address: mcmboup@yahoo.fr.
authors.forename: M C
authors.initials: MC
authors.lastname: Mboup
authors.affiliation: Service de cardiologie, hôpital principal de Dakar, 1, avenue Nelson Mandéla, BP 3006, Dakar, Sénégal.
authors.forename: K
authors.initials: K
authors.lastname: Dia
authors.affiliation: Service de cardiologie, hôpital principal de Dakar, 1, avenue Nelson Mandéla, BP 3006, Dakar, Sénégal.
authors.forename: D M
authors.initials: DM
authors.lastname: Ba
authors.affiliation: Service de cardiologie, hôpital principal de Dakar, 1, avenue Nelson Mandéla, BP 3006, Dakar, Sénégal.
authors.forename: P D
authors.initials: PD
authors.lastname: Fall
mesh_terms: D000074:Acenocoumarol / Q000627:therapeutic use*; D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use*; D004351:Drug Resistance / Q000235:genetics*; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D011655:Pulmonary Embolism / Q000188:drug therapy*; D064417:Vitamin K Epoxide Reductases / Q000235:genetics*
chemical_list: D000925:Anticoagulants; C578523:VKORC1 protein, human; D064417:Vitamin K Epoxide Reductases; D000074:Acenocoumarol
keywords: Mutation Val66Met vitamin K epoxide reductase; Mutation Val66Met vitamine K époxyde réductase; Resistance to acenocoumarol; Résistance acénocoumarol